A rare genetic mutation, Wilson’s disease, caused 15-year-old Aditya Tiwari to behave erratically, which led to him being expelled from school. He’s now on the road to recovery

Three years ago, late one night, 12-year-old Aditya Tiwari was kicked out of the house. His father Manoj Tiwari left him standing alone on a highway. Aditya had been watching TV the whole day. When his father switched it off, Aditya started hitting him. Aditya’s irresponsible, aggressive and errant behaviour had become a menace for the family. He had hit his mother, troubled his little sister, never did his homework, tore his books, masturbated frequently and quarrelled with friends. What Manoj didn’t know was that his son, now 15 years old, was suffering from a rare genetic disorder called Wilson’s disease that had changed him from a normal boy to an erratic aggressive child almost suddenly. The neurological and motor damage happened within a span of six months.

Wilson’s diseaseDr Mohit Bhatt, consultant neurologist and movement disorder specialist at Kokilaben Dhirubhai Ambani Hospital, explains that Wilson’s disease is caused when a defective XX or XY gene is transferred from both the parents to the child. When two defective genes, one from each parent combine, it impacts the ceruloplasmin enzyme which is responsible for metabolising copper in the body.

In healthy people, the liver excretes most of the unnecessary copper through the kidneys with the help of the ceruloplasmin enzyme. When the liver is unable to produce it, copper is released into the blood stream and travels throughout the body damaging the brain, kidneys, liver and eyes. The body starts showing symptoms of the disease between the age of 6 and 20. In most cases the disease goes undiagnosed because it doesn’t have a set pattern of symptoms. Some common variations are — changes in one’s personality, speech impairment, hyper-sexuality, repeated jaundice, difficulty in movement and uncontrolled aggression or depression.

The onset Aditya was studying in Class Five when the disease hit him. His concentration in studies dipped and his grades dropped.

“Every day there was a complaint from his school,” says his father, who works as a salesman. “He had failed in a class test, spoilt his book by salivating on it or picked up a fight with one of his classmates. Like us, the teachers too didn’t have clue what was going on with our son. The only thing he would do constantly is watch television and annoy his sister who is four years younger. He had become irritable and did not like anybody objecting to what he was doing,” says Manoj.

Things got out of hand when Aditya bashed up one of his classmates and injured him. “He had stolen my book. I was just trying to get it back,” says Aditya. His speech at the time had deteriorated and he couldn’t explain himself. The school authorities found his behaviour unacceptable and rusticated him from the school.

Manoj was shattered and decided to throw him out of the house. He later realised his mistake and after frantic hours of searching, Aditya was found across the highway at his uncle’s house. He was taken to the doctor and diagnosed with Wilson’s disease. It had manifested itself in the form of speech impairment, difficulty in walking, aggression and hyper sexuality.

The way out The treatment involves a medication that traps the copper in the blood and releases it through urine. However, due to high doses of Penicillamine, a drug used in Wilson’s treatment, Aditya’s condition got worse. The side effects further slowed down his motor and cognitive functions. Dr Bhatt finally came to Manoj’s rescue and helped them with the right treatment. According to Bhatt, if the disease is not treated in time, symptoms such as hyper sexuality can become uncontrollable. “If hypersexual patients have the means, they would watch porn incessantly, visit prostitutes, masturbate regularly and even grab someone in public. However, Aditya’s case wasn’t as severe,” says Bhatt.

Path to recovery It’s been two years since Aditya started the treatment and life is almost back to normal. He has overcome his aggression and motor impairment. He still slurs while talking but his condition is improving. With time, the dosage of medicines will reduce, however, he will need to take them for life. His 11-yearold sister was lucky and didn’t get the faulty gene from her parents.

For the three precious years of schooling he lost, his father has been desperate to get him readmitted. “School principals tell me that they would not like to take a risk with a child who was rusticated for bad behaviour,” says Manoj. “After pleading, the principal of his previous school agreed to take him on a trail basis.” Aditya was admitted to standard six in the month of June this year. His behaviour has been exemplary since and he is performing well in studies. “I even got a good remark from my teacher,” he says delighted.

The varied mutant Experts in Europe have examined genetic defects of disease-affected patients and found 600 different mutations. This makes it very easy to isolate and diagnose. Given India’s large population, finding and mapping total number of mutations in the affected people requires large funding. Recently Dr Mohit Bhatt and his team, in collaboration with a German lab, identified three new Indian mutations of the disease.

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